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HIV-1, the causative agent of acquired immunodeficiency syndrome (AIDS), contains an RNA genome that produces a chromosomally integrated DNA during the replicative cycle. Activation of HIV-1 gene expression by the transactivator Tat is dependent on an RNA regulatory element (TAR) located downstream of the transcription initiation site. The protein encoded by this gene is a tran... See more...
Aliases for TARDBP Gene
Aliases for TARDBP Gene
External Ids for TARDBP Gene
- HGNC: 11571
- Entrez Gene: 23435
- Ensembl: ENSG00000120948
- OMIM: 605078
- UniProtKB: Q13148
Previous GeneCards Identifiers for TARDBP Gene
- GC01P011033
- GC01P010916
- GC01P010682
- GC01P010782
- GC01P011006
- GC01P010224
- GC01P011072
Summaries for TARDBP Gene
-
HIV-1, the causative agent of acquired immunodeficiency syndrome (AIDS), contains an RNA genome that produces a chromosomally integrated DNA during the replicative cycle. Activation of HIV-1 gene expression by the transactivator Tat is dependent on an RNA regulatory element (TAR) located downstream of the transcription initiation site. The protein encoded by this gene is a transcriptional repressor that binds to chromosomally integrated TAR DNA and represses HIV-1 transcription. In addition, this protein regulates alternate splicing of the CFTR gene. A similar pseudogene is present on chromosome 20. [provided by RefSeq, Jul 2008]
GeneCards Summary for TARDBP Gene
TARDBP (TAR DNA Binding Protein) is a Protein Coding gene. Diseases associated with TARDBP include Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia and Motor Neuron Disease. Among its related pathways are Neuroscience. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and DNA-binding transcription factor activity. An important paralog of this gene is PABPC4.
UniProtKB/Swiss-Prot Summary for TARDBP Gene
-
RNA-binding protein that is involved in various steps of RNA biogenesis and processing (PubMed:23519609). Preferentially binds, via its two RNA recognition motifs RRM1 and RRM2, to GU-repeats on RNA molecules predominantly localized within long introns and in the 3'UTR of mRNAs (PubMed:23519609, PubMed:24240615, PubMed:24464995). In turn, regulates the splicing of many non-coding and protein-coding RNAs including proteins involved in neuronal survival, as well as mRNAs that encode proteins relevant for neurodegenerative diseases (PubMed:21358640, PubMed:29438978). Plays a role in maintaining mitochondrial homeostasis by regulating the processing of mitochondrial transcripts (PubMed:28794432). Regulates also mRNA stability by recruiting CNOT7/CAF1 deadenylase on mRNA 3'UTR leading to poly(A) tail deadenylation and thus shortening (PubMed:30520513). In response to oxidative insult, associates with stalled ribosomes localized to stress granules (SGs) and contributes to cell survival (PubMed:23398327, PubMed:19765185). Participates also in the normal skeletal muscle formation and regeneration, forming cytoplasmic myo-granules and binding mRNAs that encode sarcomeric proteins (PubMed:30464263). Plays a role in the maintenance of the circadian clock periodicity via stabilization of the CRY1 and CRY2 proteins in a FBXL3-dependent manner (PubMed:27123980).
Additional gene information for TARDBP Gene
- HGNC(11571)
- Entrez Gene(23435)
- Ensembl(ENSG00000120948)
- OMIM(605078)
- UniProtKB(Q13148)
- Open Targets Platform(ENSG00000120948)
- Monarch Initiative
- Search for TARDBP at DataMed
- Search for TARDBP at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TARDBP Gene
Genomics for TARDBP Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for TARDBP Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around TARDBP on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TARDBP
- Top Transcription factor binding sites by QIAGEN in the TARDBP gene promoter:
-
- c-Myb
- E47
- Hand1
- HEN1
- IRF-1
- LyF-1
- Pbx1a
- STAT5A
- Tal-1
Genomic Locations for TARDBP Gene
Genomic Locations for TARDBP Gene
- chr1:11,012,344-11,030,528
- (GRCh38/hg38)
- Size:
- 18,185 bases
- Orientation:
- Plus strand
- chr1:11,072,414-11,085,796
- (GRCh37/hg19)
- Size:
- 13,383 bases
- Orientation:
- Plus strand
Genomic View for TARDBP Gene
Genes around TARDBP on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1p36.22 by HGNC
- 1p36.22 by Entrez Gene
- 1p36.22 by Ensembl
TARDBP Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for TARDBP Gene
Proteins for TARDBP Gene
-
Protein details for TARDBP Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q13148-TADBP_HUMAN
- Recommended name:
- TAR DNA-binding protein 43
- Protein Accession:
- Q13148
- A4GUK4
- A4GUK5
- A4GUK6
- B2R629
- B4DJ45
- E2PU12
- Q53H27
- Q6FI92
- Q96DJ0
Protein attributes for TARDBP Gene
- Size:
- 414 amino acids
- Molecular mass:
- 44740 Da
- Quaternary structure:
-
- Homodimer (PubMed:20043239, PubMed:24464995). Homooligomer (via its N-terminal domain) (PubMed:28663553, PubMed:29438978). Interacts with BRDT (By similarity). Binds specifically to pyrimidine-rich motifs of TAR DNA and to single stranded TG repeated sequences. Binds to RNA, specifically to UG repeated sequences with a minimun of six contiguous repeats. Interacts with ATNX2; the interaction is RNA-dependent (PubMed:20740007). Interacts with MATR3 (PubMed:24686783). Interacts with UBQLN2 (PubMed:23541532). Interacts with HNRNPA2B1 (PubMed:19429692). Interacts with ZNF106 (By similarity). Interacts with CNOT7/CAF1 (PubMed:30520513). Interacts with CRY2 (PubMed:27123980).
- SequenceCaution:
-
- Sequence=ABO32290.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305}; Sequence=ABO32292.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};
Three dimensional structures from OCA and Proteopedia for TARDBP Gene
Protein Expression for TARDBP Gene
Post-translational modifications for TARDBP Gene
- Hyperphosphorylated in hippocampus, neocortex, and spinal cord from individuals affected with ALS and FTLDU. Phosphorylated upon cellular stress.
- Ubiquitinated in hippocampus, neocortex, and spinal cord from individuals affected with ALS and FTLDU.
- Cleaved to generate C-terminal fragments in hippocampus, neocortex, and spinal cord from individuals affected with ALS and FTLDU.
-
Ubiquitination at Lys160, Lys181, Lys95, Lys102, and Lys114
- NX_Q13148 (NX_Q13148-1)
- Modification sites at PhosphoSitePlus
Other Protein References for TARDBP Gene
- ENSEMBL proteins:
-
- ENSP00000465240
- ENSP00000240185
- ENSP00000491203
- ENSP00000492196
- ENSP00000404666
- ENSP00000466842
- ENSP00000465080
- ENSP00000480690
- ENSP00000313129
- ENSP00000432132
- ENSP00000497327
- ENSP00000482191
- ENSP00000484722
- ENSP00000481206
- ENSP00000479219
- ENSP00000481330
- ENSP00000480771
- ENSP00000479978
- ENSP00000482559
- ENSP00000482754
- ENSP00000465888
- ENSP00000479758
- ENSP00000477852
- ENSP00000467020
- ENSP00000486989
- ENSP00000491085
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ TARDBP Antibody and Immunotag™ TDP43 Antibody
- GeneTex Anti-TDP43 antibody and Anti-TDP43 antibody [GT225]
-
Custom Antibody ServicesOriGene Antibodies for TARDBP
- Novus Biologicals Antibodies for TARDBP
-
Abcam antibodies for TARDBP
- Invitrogen Antibodies for TARDBP (AFLGC-TARDBP)
- antibodies-online: Show 48 available TARDBP Antibodies ranked by validation data
- Compare Top TARDBP Antibodies
-
Recommended
- 209 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 4 IHC Antibodies (anti-human)
- 2 IHC (p) Antibodies (anti-human)
- 114 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 1 IHC Antibody (anti-mouse)
- 1 IHC (p) Antibody (anti-mouse)
- 78 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 1 IHC (p) Antibody (anti-rat)
-
Custom Antibody ServicesProSci Antibodies for TARDBP
-
Santa Cruz Biotechnology (SCBT) Antibodies for TARDBP
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for TARDBP
- Origene Custom Protein Services for TARDBP
- ProSpec Recombinant Proteins for TARDBP
-
Abcam proteins for TARDBP
No data available for DME Specific Peptides for TARDBP Gene
Domains & Families for TARDBP Gene
Gene Families for TARDBP Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for TARDBP Gene
- InterPro:
- Blocks:
-
- RNA-binding region RNP-1 (RNA recognition motif)
- ProtoNet:
Suggested Antigen Peptide Sequences for TARDBP Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ58188, highly similar to TAR DNA-binding protein 43 (B4DJ45_HUMAN)
- TAR DNA binding protein, isoform CRA_c (Q9H256_HUMAN)
- TAR DNA-binding protein 43 (TADBP_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q13148UniProtKB/Swiss-Prot:
TADBP_HUMAN :- Consists of an N-terminal domain (NTD) and two tandem RNA recognition motifs, RRM1 and RRM2, followed by a C-terminal glycine-rich region.
- Domain:
-
- Consists of an N-terminal domain (NTD) and two tandem RNA recognition motifs, RRM1 and RRM2, followed by a C-terminal glycine-rich region.
- Contains a nuclear localization sequence and is mostly nuclear; however, its nuclear export sequence permits it to transport mRNAs to the cytoplasm and even to synapses as part of neuronal granules.
Function for TARDBP Gene
Molecular function for TARDBP Gene
- UniProtKB/Swiss-Prot Function:
- RNA-binding protein that is involved in various steps of RNA biogenesis and processing (PubMed:23519609). Preferentially binds, via its two RNA recognition motifs RRM1 and RRM2, to GU-repeats on RNA molecules predominantly localized within long introns and in the 3'UTR of mRNAs (PubMed:23519609, PubMed:24240615, PubMed:24464995). In turn, regulates the splicing of many non-coding and protein-coding RNAs including proteins involved in neuronal survival, as well as mRNAs that encode proteins relevant for neurodegenerative diseases (PubMed:21358640, PubMed:29438978). Plays a role in maintaining mitochondrial homeostasis by regulating the processing of mitochondrial transcripts (PubMed:28794432). Regulates also mRNA stability by recruiting CNOT7/CAF1 deadenylase on mRNA 3'UTR leading to poly(A) tail deadenylation and thus shortening (PubMed:30520513). In response to oxidative insult, associates with stalled ribosomes localized to stress granules (SGs) and contributes to cell survival (PubMed:23398327, PubMed:19765185). Participates also in the normal skeletal muscle formation and regeneration, forming cytoplasmic myo-granules and binding mRNAs that encode sarcomeric proteins (PubMed:30464263). Plays a role in the maintenance of the circadian clock periodicity via stabilization of the CRY1 and CRY2 proteins in a FBXL3-dependent manner (PubMed:27123980).
Phenotypes From GWAS Catalog for TARDBP Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IEA | -- |
| GO:0003676 | nucleic acid binding | IEA | -- |
| GO:0003677 | DNA binding | IEA | -- |
| GO:0003690 | double-stranded DNA binding | IDA | 7745706 |
| GO:0003700 | DNA-binding transcription factor activity | TAS | 7745706 |
Phenotypes for TARDBP Gene
- MGI mutant phenotypes for TARDBP:
-
inferred from 19 alleles
- nervous system phenotype
- immune system phenotype
- cellular phenotype
- behavior/neurological phenotype
- mortality/aging
- muscle phenotype
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- skeleton phenotype
- hematopoietic system phenotype
- embryo phenotype
- adipose tissue phenotype
- no phenotypic analysis
- GenomeRNAi human phenotypes for TARDBP:
Animal Models for TARDBP Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for TARDBP - Select products 50% OFF >
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-
OriGene CRISPR knockouts for TARDBP
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TARDBP
-
Santa Cruz Biotechnology (SCBT) CRISPR for TARDBP
miRNA for TARDBP Gene
- miRTarBase miRNAs that target TARDBP
-
- mmu-miR-297a-5p (MIRT013042)
- hsa-miR-186-5p (MIRT021204)
- hsa-miR-192-5p (MIRT026694)
- hsa-miR-1229-3p (MIRT036282)
- hsa-miR-93-3p (MIRT038804)
- hsa-miR-125b-5p (MIRT046010)
- hsa-miR-15b-5p (MIRT046426)
- hsa-miR-1260b (MIRT052712)
- hsa-miR-583 (MIRT178871)
- hsa-miR-1276 (MIRT178872)
- hsa-miR-4311 (MIRT178873)
- hsa-miR-7846-3p (MIRT178874)
- hsa-miR-548c-3p (MIRT264533)
- hsa-miR-4282 (MIRT264534)
- hsa-miR-1302 (MIRT331690)
- hsa-miR-4298 (MIRT331691)
- hsa-miR-8485 (MIRT437342)
- hsa-miR-513a-5p (MIRT466612)
- hsa-miR-4278 (MIRT466613)
- hsa-miR-7111-5p (MIRT466614)
- hsa-miR-6870-5p (MIRT466615)
- hsa-miR-5698 (MIRT466616)
- hsa-miR-4723-5p (MIRT466617)
- hsa-miR-6732-5p (MIRT466618)
- hsa-miR-6805-5p (MIRT466619)
- hsa-miR-6794-5p (MIRT466620)
- hsa-miR-4716-3p (MIRT466621)
- hsa-miR-27b-3p (MIRT466622)
- hsa-miR-27a-3p (MIRT466623)
- hsa-miR-4452 (MIRT574275)
- hsa-miR-183-3p (MIRT574276)
- hsa-miR-7153-3p (MIRT574277)
- mmu-miR-340-5p (MIRT594239)
- hsa-miR-4778-3p (MIRT652816)
- hsa-miR-4698 (MIRT652817)
- hsa-miR-524-5p (MIRT707628)
- hsa-miR-520d-5p (MIRT707629)
- hsa-miR-3919 (MIRT707630)
- hsa-miR-3613-3p (MIRT707631)
- hsa-miR-3123 (MIRT707632)
- hsa-miR-3529-3p (MIRT707633)
- hsa-miR-8054 (MIRT707634)
- hsa-miR-548k (MIRT707635)
- hsa-miR-548av-5p (MIRT707636)
- hsa-miR-548n (MIRT707637)
- hsa-miR-1238-3p (MIRT711897)
- hsa-miR-670-3p (MIRT711898)
- hsa-miR-6881-3p (MIRT711899)
- hsa-miR-6780a-3p (MIRT711900)
- hsa-miR-7111-3p (MIRT711901)
- hsa-miR-4742-3p (MIRT711902)
- hsa-miR-877-3p (MIRT711903)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TARDBP
- Browse OriGene Inhibitory RNA Products For TARDBP
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TARDBP
Clone Products
- Applied Biological Materials (abm): Clones for TARDBP - Select products 50% OFF >
- * TARDBP as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG204079
- MG206534
- MG225557
- MG225623
- MG225626
- MR204079
- MR204079L3
- MR204079L4
- MR206534
- MR206534L3
- MR206534L4
- MR225557
- MR225557L3
- MR225557L4
- MR225623
- MR225623L3
- MR225623L4
- MR225626
- MR225626L3
- MR225626L4
- RC210639
- RC210639L1
- RC210639L2
- RC210639L3
- RC210639L4
- RG210639
- RR209466
- RR209466L3
- RR209466L4
- MR204079L3V
- MR204079L4V
- MR206534L3V
- MR206534L4V
- MR225557L3V
- MR225557L4V
- MR225623L3V
- MR225623L4V
- MR225626L3V
- MR225626L4V
- RC210639L1V
- RC210639L2V
- RC210639L3V
- RC210639L4V
- RR209466L3V
- RR209466L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for TARDBP
- Addgene plasmids for TARDBP
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TARDBP
Cell Line Products
-
Horizon Cell Lines for TARDBP
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TARDBP Gene
Localization for TARDBP Gene
Subcellular locations from UniProtKB/Swiss-Prot for TARDBP Gene
- Nucleus. Cytoplasm. Cytoplasm, Stress granule. Note=Continuously travels in and out of the nucleus (PubMed:18957508). Localizes to stress granules in response to oxidative stress (PubMed:19765185). {ECO:0000269 PubMed:18957508, ECO:0000269 PubMed:19765185}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 3 |
| plasma membrane | 2 |
| extracellular | 2 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| endoplasmic reticulum | 2 |
| endosome | 2 |
| lysosome | 2 |
| golgi apparatus | 2 |
| peroxisome | 1 |
- Nucleoplasm (4)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IBA,IDA | 11285240 |
| GO:0005654 | nucleoplasm | IBA,IDA | -- |
| GO:0005726 | perichromatin fibrils | IEA | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0010494 | cytoplasmic stress granule | IEA | -- |
Pathways & Interactions for TARDBP Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Neuroscience | ||
Pathways by source for TARDBP Gene
1 Cell Signaling Technology pathway for TARDBP Gene
Interacting Proteins for TARDBP Gene
Selected Interacting proteins:
Q13148-TADBP_HUMAN
ENSP00000240185
for TARDBP Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for TARDBP
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001933 | negative regulation of protein phosphorylation | IMP | 18305152 |
| GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
| GO:0006366 | transcription by RNA polymerase II | TAS | 7745706 |
| GO:0006397 | mRNA processing | IEA | -- |
| GO:0008380 | RNA splicing | IDA | 11285240 |
No data available for SIGNOR curated interactions for TARDBP Gene
Transcripts for TARDBP Gene
mRNA/cDNA for TARDBP Gene
- 1 REFSEQ mRNAs :
- 24 NCBI additional mRNA sequence :
- 32 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000240185 4185 nts (view in UCSC)
- ENST00000315091 1835 nts (view in UCSC)
- ENST00000439080 1388 nts (view in UCSC)
- ENST00000472476 1001 nts (view in UCSC)
- ENST00000473118 701 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for TARDBP - Select products 50% OFF >
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- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for TARDBP
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TARDBP
-
Santa Cruz Biotechnology (SCBT) CRISPR for TARDBP
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TARDBP
- Browse OriGene Inhibitory RNA Products For TARDBP
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TARDBP
Clone Products
- Applied Biological Materials (abm): Clones for TARDBP - Select products 50% OFF >
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- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG204079
- MG206534
- MG225557
- MG225623
- MG225626
- MR204079
- MR204079L3
- MR204079L4
- MR206534
- MR206534L3
- MR206534L4
- MR225557
- MR225557L3
- MR225557L4
- MR225623
- MR225623L3
- MR225623L4
- MR225626
- MR225626L3
- MR225626L4
- RC210639
- RC210639L1
- RC210639L2
- RC210639L3
- RC210639L4
- RG210639
- RR209466
- RR209466L3
- RR209466L4
- MR204079L3V
- MR204079L4V
- MR206534L3V
- MR206534L4V
- MR225557L3V
- MR225557L4V
- MR225623L3V
- MR225623L4V
- MR225626L3V
- MR225626L4V
- RC210639L1V
- RC210639L2V
- RC210639L3V
- RC210639L4V
- RR209466L3V
- RR209466L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for TARDBP
- Addgene plasmids for TARDBP
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TARDBP
Relevant External Links for TARDBP Gene
- GeneLoc Exon Structure for
- TARDBP
Expression for TARDBP Gene
This gene is overexpressed in Nasal epithelium (7.8).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TARDBP Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TARDBP
SOURCE GeneReport for Unigene cluster for TARDBP Gene:
Hs.300624mRNA Expression by UniProt/SwissProt for TARDBP Gene:
Q13148-TADBP_HUMAN
Tissue specificity:
Ubiquitously expressed. In particular, expression is high in pancreas, placenta, lung, genital tract and spleen.
Evidence on tissue expression from TISSUES for TARDBP Gene
- Nervous system(5)
- Liver(4.6)
- Kidney(3.8)
- Blood(3.7)
- Lung(3.6)
- Skin(3.5)
- Eye(3.4)
- Muscle(3.1)
- Intestine(3.1)
- Pancreas(2.9)
- Heart(2.6)
- Adrenal gland(2.4)
- Thyroid gland(2.4)
- Spleen(2.3)
- Lymph node(2.3)
- Stomach(2.2)
- Bone marrow(2.2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for TARDBP Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- nervous
- respiratory
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- cerebellum
- cranial nerve
- ear
- epiglottis
- face
- head
- jaw
- larynx
- mandible
- maxilla
- mouth
- neck
- nose
- pharynx
- skull
- tongue
- vocal cord
Thorax:
- bronchus
- clavicle
- esophagus
- heart
- lung
- scapula
- trachea
Abdomen:
- biliary tract
- liver
- stomach
Limb:
- arm
- digit
- finger
- foot
- forearm
- hand
- humerus
- lower limb
- shin
- shoulder
- thigh
- toe
- upper limb
General:
- blood vessel
- peripheral nerve
- peripheral nervous system
- spinal cord
Primer Products
-
OriGene qPCR primer pairs for TARDBP
-
OriGene qPCR primer pairs and template standards for TARDBP
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for TARDBP Gene
Orthologs for TARDBP Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | TARDBP 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | TARDBP 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | TARDBP 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Tardbp 30 17 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | TARDBP 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | TARDBP 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | TARDBP 30 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | tardbp 30 |
|
||
| MGC75857 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | tardbp-prov 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | tardbpl 31 |
|
OneToMany | |
| tardbp 30 31 |
|
OneToMany | |||
| wufb77f02 30 |
|
||||
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.3538 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG7804 31 32 |
|
OneToMany | |
| TBPH 31 32 |
|
OneToMany | |||
| Worm (Caenorhabditis elegans) |
Secernentea | F44G4.4 32 |
|
|
|
| tdp-1 31 |
|
OneToOne | |||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.10473 31 |
|
OneToOne | |
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.3080 30 |
|
- Species where no ortholog for TARDBP was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Lizard (Anolis carolinensis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rat (Rattus norvegicus)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for TARDBP Gene
- ENSEMBL:
- Gene Tree for TARDBP (if available)
- TreeFam:
- Gene Tree for TARDBP (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for TARDBP: view image
Paralogs for TARDBP Gene
Paralogs for TARDBP Gene
(7) SIMAP similar genes for TARDBP Gene using alignment to 10 proteins:
- TADBP_HUMAN
- B1AKP7_HUMAN
- B4DJ45_HUMAN
- G3V162_HUMAN
- K7EJ99_HUMAN
- K7EJM5_HUMAN
- K7EL26_HUMAN
- K7EN94_HUMAN
- K7ENM9_HUMAN
- Q9H256_HUMAN
Pseudogenes.org Pseudogenes for TARDBP Gene
Variants for TARDBP Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TARDBP Gene
| SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 641575 | Uncertain Significance: Amyotrophic lateral sclerosis type 10; TARDBP-related frontotemporal dementia | 11,022,515(+) | C/CTGGAAATAACTCT | INFRAME_INSERTION | |
| 704022 | Benign: not provided | 11,013,751(+) | C/T | SYNONYMOUS_VARIANT | |
| 741536 | Likely Benign: not provided | 11,018,801(+) | A/G | SYNONYMOUS_VARIANT | |
| 801435 | Likely Pathogenic: Frontotemporal dementia | 11,022,538(+) | T/C | MISSENSE_VARIANT | |
| 805651 | Benign: not provided | 11,022,384(+) | C/T | SYNONYMOUS_VARIANT |
Residual Variation Intolerance Score:
25.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.08;
1.78% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for TARDBP Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TARDBP Gene
Disorders for TARDBP Gene
(69) MalaCards diseases for TARDBP Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| amyotrophic lateral sclerosis 10 with or without frontotemporal dementia |
|
|
| motor neuron disease |
|
|
| frontotemporal dementia and/or amyotrophic lateral sclerosis 1 |
|
|
| amyotrophic lateral sclerosis 1 |
|
|
| frontotemporal dementia |
|
Search TARDBP in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
TADBP_HUMAN- Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069]: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. {ECO:0000269 PubMed:18288693, ECO:0000269 PubMed:18309045, ECO:0000269 PubMed:18372902, ECO:0000269 PubMed:18396105, ECO:0000269 PubMed:18438952, ECO:0000269 PubMed:19224587, ECO:0000269 PubMed:19350673, ECO:0000269 PubMed:19655382, ECO:0000269 PubMed:19695877, ECO:0000269 PubMed:20740007, ECO:0000269 PubMed:21220647, ECO:0000269 PubMed:21418058, ECO:0000269 PubMed:22456481}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for TARDBP
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for TARDBP Gene
Publications for TARDBP Gene
- High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis. (PMID: 19224587) Corrado L … D'Alfonso S (Human mutation 2009) 3 4 23 41
- Cloning and characterization of a novel cellular protein, TDP-43, that binds to human immunodeficiency virus type 1 TAR DNA sequence motifs. (PMID: 7745706) Ou SH … Gaynor RB (Journal of virology 1995) 2 3 4 23
- TDP-43 dimerizes in human cells in culture. (PMID: 20043239) Shiina Y … Satoh J (Cellular and molecular neurobiology 2010) 3 4 23
- Association between novel TARDBP mutations and Chinese patients with amyotrophic lateral sclerosis. (PMID: 20082726) Xiong HL … Wu ZY (BMC medical genetics 2010) 3 23 41
- TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration. (PMID: 19350673) Benajiba L … French Clinical and Genetic Research Network on Frontotemporal Lobar Degeneration/Frontotemporal Lobar Degeneration with Motoneuron Disease (Annals of neurology 2009) 3 4 23
ExternalLinks
Products for TARDBP Gene
- Custom Antibody ServicesOriGene Antibodies for TARDBP
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- MG204079
- MG206534
- MG225557
- MG225623
- MG225626
- MR204079
- MR204079L3
- MR204079L4
- MR206534
- MR206534L3
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- MR225557
- MR225557L3
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- MR225623
- MR225623L3
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- MR225626
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- RC210639
- RC210639L1
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- RG210639
- RR209466
- RR209466L3
- RR209466L4
- MR204079L3V
- MR204079L4V
- MR206534L3V
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- MR225557L3V
- MR225557L4V
- MR225623L3V
- MR225623L4V
- MR225626L3V
- MR225626L4V
- RC210639L1V
- RC210639L2V
- RC210639L3V
- RC210639L4V
- RR209466L3V
- RR209466L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For TARDBP
- Sino Biological Human cDNA Clone for TARDBP
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
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- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for TARDBP
- Novus Biologicals proteins and lysates for TARDBP
- Novus Biologicals ELISA Kits for TARDBP
- Browse Antibodies
- Browse Peptides and Proteins
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- Abcam antibodies for TARDBP
- Abcam proteins for TARDBP
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- Browse Primary Antibodies
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- VectorBuilder Custom and pre-made DNA vectors for TARDBP (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for TARDBP (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for TARDBP (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for TARDBP CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for TARDBP
- Addgene plasmids for TARDBP
- antibodies-online: Show 48 available TARDBP Antibodies ranked by validation data
- Compare Top TARDBP Antibodies
- Recommended
- 209 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 4 IHC Antibodies (anti-human)
- 2 IHC (p) Antibodies (anti-human)
- 114 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 1 IHC Antibody (anti-mouse)
- 1 IHC (p) Antibody (anti-mouse)
- 78 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 1 IHC (p) Antibody (anti-rat)
- antibodies-online: Show 37 available TARDBP Elisa Kits ranked by validation data
- Compare Top TARDBP Elisa Kits
- antibodies-online: Show 16 available TARDBP Proteins ranked by validation data
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- Santa Cruz Biotechnology (SCBT) Antibodies for TARDBP
- Search Santa Cruz Biotechnology (SCBT) for TARDBP siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for TARDBP
- Custom Antibody ServicesProSci Antibodies for TARDBP
- Search for TARDBP Proteins at ProSci
- Horizon Cell Lines for TARDBP
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TARDBP
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TARDBP
- Search GeneCopoeia for miRNA 3'UTR Target clone products for TARDBP
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TARDBP
Sources for TARDBP Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB